ClinVar Miner

List of variants in gene PMS2 reported by GenomeConnect, ClinGen

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Total variants: 8
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NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala) rs876660508
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150

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